RTD
MCID: RNL028
MIFTS: 51

Renal Tubular Dysgenesis (RTD) malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases

Aliases & Classifications for Renal Tubular Dysgenesis

Aliases & Descriptions for Renal Tubular Dysgenesis:

Name: Renal Tubular Dysgenesis 54 50 25 56 66 13 52
Primitive Renal Tubule Syndrome 50 25 56
Allanson Pantzar Mcleod Syndrome 25 69
Rtd 50 66
Renal Tubular Dysgenesis of Genetic Origin 56
Renotubular Dysgenesis 56

Characteristics:

Orphanet epidemiological data:

56
renal tubular dysgenesis
Inheritance: Autosomal recessive,Not applicable;
renal tubular dysgenesis of genetic origin
Inheritance: Autosomal recessive;

HPO:

32
renal tubular dysgenesis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 267430
UMLS via Orphanet 70 C0266313
ICD10 via Orphanet 34 Q63.8

Summaries for Renal Tubular Dysgenesis

Genetics Home Reference : 25 Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth. In particular, kidney structures called proximal tubules are absent or underdeveloped. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete everything else into the urine. Without functional proximal tubules, the kidneys cannot produce urine (a condition called anuria).

MalaCards based summary : Renal Tubular Dysgenesis, also known as primitive renal tubule syndrome, is related to renal tubular dysgenesis, agt-related and renal tubular dysgenesis, agtr1-related, and has symptoms including hypertelorism, microcephaly and nephropathy. An important gene associated with Renal Tubular Dysgenesis is AGT (Angiotensinogen), and among its related pathways/superpathways are p70S6K Signaling and Peptide hormone metabolism. The drugs Ritonavir and Efavirenz have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and placenta, and related phenotypes are adipose tissue and cardiovascular system

OMIM : 54 Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by... (267430) more...

UniProtKB/Swiss-Prot : 66 Renal tubular dysgenesis: Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype).

Related Diseases for Renal Tubular Dysgenesis

Diseases in the Renal Tubular Dysgenesis family:

Renal Tubular Dysgenesis, Ace-Related Renal Tubular Dysgenesis, Agt-Related
Renal Tubular Dysgenesis, Agtr1-Related Renal Tubular Dysgenesis, Ren-Related
Renal Tubular Dysgenesis Due to Twin-Twin Transfusion

Diseases related to Renal Tubular Dysgenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
id Related Disease Score Top Affiliating Genes
1 renal tubular dysgenesis, agt-related 12.0
2 renal tubular dysgenesis, agtr1-related 12.0
3 renal tubular dysgenesis, ren-related 12.0
4 renal tubular dysgenesis due to twin-twin transfusion 12.0
5 drug-related renal tubular dysgenesis 12.0
6 renal tubular dysgenesis, ace-related 12.0
7 penile cancer, childhood 10.1 ACE AGT
8 malignant hyperthermia susceptibility 1 10.1 ACE AGT
9 hypotrichosis simplex 10.1 ACE REN
10 hyperinsulinemic hypoglycemia, familial, 3 10.1 ACE REN
11 carbohydrate metabolic disorder 10.1 ACE REN
12 hypothyroidism, congenital nongoitrous, 5 10.1 ACE REN
13 hypogonadism mitral valve prolapse mental retardation 10.1 ACE REN
14 listeriosis 10.1 ACE REN
15 dientamoebiasis 10.1 ACE REN
16 congenital nystagmus 10.1 ACE REN
17 hypoaldosteronism, congenital, due to cmo i deficiency 10.1 AGT REN
18 chylocele of tunica vaginalis 10.1 ACE REN
19 hemochromatosis 10.1
20 oligohydramnios 10.1
21 myopia 10.1 ACE REN
22 pythiosis 10.0 ACE REN
23 microphthalmia, isolated, with coloboma 7 10.0 ACE REN
24 episodic kinesigenic dyskinesia 2 10.0 AGT REN
25 pulmonary valve insufficiency 10.0 ACE REN
26 aorta angiosarcoma 10.0 ACE REN
27 deafness, autosomal recessive 79 10.0 ACE REN
28 pyelonephritis 10.0 ACE REN
29 limb ischemia 10.0 ACE REN
30 diabetic encephalopathy 10.0 ACE REN
31 gastrointestinal lymphoma 10.0 ACE REN
32 mental retardation hypocupremia hypobetalipoproteinemia 10.0 AGT AGTR1
33 joint disorders 10.0 ACE AGTR1
34 alpha-2-plasmin inhibitor deficiency 10.0 ACE AGTR1
35 hypertrichosis of eyelid 10.0 ACE AGTR1
36 adams-oliver syndrome 10.0 ACE AGT
37 acute posterior multifocal placoid pigment epitheliopathy 10.0 ACE AGTR1
38 panuveitis 9.9 AGTR1 REN
39 peroneal neuropathy 9.9 ACE REN
40 citrullinemia, type ii, neonatal-onset 9.9 ACE AGTR1
41 welander distal myopathy 9.9 AGT AGTR1
42 schizotypal personality disorder 9.9 ACE AGT REN
43 ceroid lipofuscinosis, neuronal, kufs type, adult onset 9.9 ACE AGT REN
44 chronic myocardial ischemia 9.9 ACE AGT REN
45 body dysmorphic disorder 9.9 ACE REN
46 hemorrhagic cystitis 9.8 AGTR1 REN
47 preaxial polydactyly of fingers 9.8 ACE AGT AGTR1
48 eye degenerative disease 9.8 ACE AGT AGTR1
49 cetp-related hyperalphalipoproteinemia 9.8 ACE AGT AGTR1
50 aplasia cutis congenita recessive 9.8 ACE AGT AGTR1

Graphical network of the top 20 diseases related to Renal Tubular Dysgenesis:



Diseases related to Renal Tubular Dysgenesis

Symptoms & Phenotypes for Renal Tubular Dysgenesis

Symptoms by clinical synopsis from OMIM:

267430

Clinical features from OMIM:

267430

Human phenotypes related to Renal Tubular Dysgenesis:

56 32 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
2 microcephaly 56 32 Occasional (29-5%) HP:0000252
3 nephropathy 56 32 Occasional (29-5%) HP:0000112
4 joint hyperflexibility 56 32 Very frequent (99-80%) HP:0005692
5 multiple renal cysts 56 32 Very frequent (99-80%) HP:0005562
6 bilateral single transverse palmar creases 56 32 Occasional (29-5%) HP:0007598
7 polyhydramnios 56 32 Very frequent (99-80%) HP:0001561
8 tetralogy of fallot 56 32 Occasional (29-5%) HP:0001636
9 oligohydramnios 56 32 Occasional (29-5%) HP:0001562
10 premature birth 56 32 Very frequent (99-80%) HP:0001622
11 pulmonary hypoplasia 56 32 Very frequent (99-80%) HP:0002089
12 proximal tubulopathy 56 32 Very frequent (99-80%) HP:0000114
13 renotubular dysgenesis 56 32 Very frequent (99-80%) HP:0008660
14 respiratory insufficiency 32 HP:0002093
15 hypotension 32 HP:0002615
16 widely patent fontanelles and sutures 32 HP:0004492
17 potter facies 32 HP:0002009
18 anuria 32 HP:0100519

MGI Mouse Phenotypes related to Renal Tubular Dysgenesis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.33 ACE AGT AGTR1
2 cardiovascular system MP:0005385 9.26 ACE AGT AGTR1 REN
3 renal/urinary system MP:0005367 8.92 ACE AGT AGTR1 REN

Drugs & Therapeutics for Renal Tubular Dysgenesis

Drugs for Renal Tubular Dysgenesis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 106)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
2
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
3
Tenofovir Approved, Investigational Phase 4 147127-20-6 464205
4
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
5
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
6
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1 22916-47-8 4189
7
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
8
Cobicistat Approved Phase 4 1004316-88-4
9
Gliclazide Approved Phase 4 21187-98-4 3475
10
Metformin Approved Phase 4 657-24-9 14219 4091
11
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
12
Amphotericin B Approved, Investigational Phase 4 1397-89-3 14956 5280965
13 Hormones Phase 4,Phase 1,Phase 2
14
protease inhibitors Phase 4
15 HIV Protease Inhibitors Phase 4
16 Cytochrome P-450 CYP3A Inhibitors Phase 4
17 Cytochrome P-450 Enzyme Inhibitors Phase 4
18 Nucleic Acid Synthesis Inhibitors Phase 4
19 Hormone Antagonists Phase 4,Phase 1,Phase 2
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 1,Phase 2
21 Efavirenz, Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 4
22 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 4
23 Pharmaceutical Solutions Phase 4
24 Anti-Bacterial Agents Phase 4,Phase 1
25 Anti-HIV Agents Phase 4
26 Anti-Infective Agents Phase 4,Phase 2,Phase 1
27 Antifungal Agents Phase 4,Phase 1
28 Anti-Retroviral Agents Phase 4
29 Reverse Transcriptase Inhibitors Phase 4
30 Mineralocorticoids Phase 4
31 Atazanavir Sulfate Phase 4
32 Antiviral Agents Phase 4,Phase 1
33 Hypoglycemic Agents Phase 4
34 diuretics Phase 4
35 Natriuretic Agents Phase 4
36 Diuretics, Potassium Sparing Phase 4
37 Liposomal amphotericin B Phase 4
38 Mineralocorticoid Receptor Antagonists Phase 4
39 Antiparasitic Agents Phase 4
40 Antiprotozoal Agents Phase 4
41
Lenograstim Approved Phase 2 135968-09-1
42
Sulfamethoxazole Approved Phase 2 723-46-6 5329
43
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
44 Analgesics Phase 2
45 Adjuvants, Immunologic Phase 2
46 Analgesics, Non-Narcotic Phase 2
47 Peripheral Nervous System Agents Phase 2
48 Anti-Inflammatory Agents Phase 2
49 Anti-Inflammatory Agents, Non-Steroidal Phase 2
50 Antirheumatic Agents Phase 2,Phase 1

Interventional clinical trials:

(show all 36)
id Name Status NCT ID Phase
1 Renal Effect of Stribild or Other Tenofovir DF-containing Regimens Compared to Ritonavir-boosted Atazanavir Plus Abacavir/Lamivudine in Antiretroviral Treatment-naive HIV-1 Infected Adults Completed NCT02246998 Phase 4
2 Renoprotective Effects of Dapagliflozin in Type 2 Diabetes Recruiting NCT02682563 Phase 4
3 Use of Spironolactone for the Prevention of Electrolyte Abnormalities in Patients Treated With Amphotericin B Terminated NCT01843309 Phase 4
4 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2
5 Bucillamine Phase 2 Trial in Patients With Cystinuria Recruiting NCT02942420 Phase 2
6 A Study of KRN23 in Subjects With Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome Active, not recruiting NCT02722798 Phase 2
7 Sulfamethoxazole for the Treatment of Primary PREPL Deficiency Enrolling by invitation NCT02640443 Phase 2
8 Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2
9 Pilot Study of Mycophenolate Mofetil in Congenital Uropathies Completed NCT00193635 Phase 1
10 Low-Dose Total-Body Irradiation and Fludarabine Phosphate Followed by Unrelated Donor Stem Cell Transplant in Treating Patients With Fanconi Anemia Completed NCT00093743 Phase 1
11 Quercetin in Children With Fanconi Anemia; a Pilot Study Recruiting NCT01720147 Phase 1
12 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
13 Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT Terminated NCT00586274 Phase 1
14 Long Term Outcome of Congenital Solitary Kidney Unknown status NCT01831141
15 PREPL in Health and Disease Unknown status NCT02263781
16 Metabolic Screening in Patients With Donnai-Barrow Syndrome Unknown status NCT01509287
17 Research Network for Neonatal Diseases Induced by Tissular Fetomaternal Alloimmunization Unknown status NCT00199628
18 Assessment and Monitoring of Renal Proximal Tubular Tolerance of Nucleoside and Nucleotide Analogues Using Early Screening Tools in Patients Chronically Mono-infected With Hepatitis B Virus Completed NCT01500265
19 Severe Impairment of Solute-Free Water Clearance in Patients With HIV Infection Completed NCT01869010
20 Cardiovascular Evaluation of Adult PHA 1 Patients Completed NCT00646828
21 Study of the Pathophysiological Mechanisms Involved in Bleeding Events Completed NCT01314560
22 Genetic Analysis of Oculocerebrorenal Syndrome of Lowe Completed NCT00359515
23 Pilot Study of Etanercept (Enbrel) in Children With Fanconi Anemia Completed NCT00965666
24 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
25 Interest to Perform a Renal Biopsy Early in the Course of the Henoch-Schoenlein Nephritis Recruiting NCT02811770
26 Clinical Observation on Bone Metabolism Induced by Chronic Renal Insufficiency Recruiting NCT02147782
27 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
28 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
29 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
30 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224
31 Fludarabine Phosphate, Melphalan, Total-Body Irradiation, Donor Stem Cell Transplant in Treating Patients With Hematologic Cancer or Bone Marrow Failure Disorders Active, not recruiting NCT00856388
32 Rare Genetic Disorders of the Breathing Airways Active, not recruiting NCT00323167
33 Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents Available NCT01995305
34 Tc-99m Renography and Cisplatin-induced Nephrotoxicity Terminated NCT00213642
35 Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer Terminated NCT00290628
36 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851

Search NIH Clinical Center for Renal Tubular Dysgenesis

Genetic Tests for Renal Tubular Dysgenesis

Anatomical Context for Renal Tubular Dysgenesis

MalaCards organs/tissues related to Renal Tubular Dysgenesis:

39
Kidney, Liver, Placenta, Fetal Liver

Publications for Renal Tubular Dysgenesis

Articles related to Renal Tubular Dysgenesis:

(show top 50) (show all 60)
id Title Authors Year
1
Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family. ( 27994858 )
2016
2
Successful treatment of hemochromatosis with renal tubular dysgenesis in a preterm infant. ( 26331014 )
2015
3
Renal function in angiotensinogen gene-mutated renal tubular dysgenesis with glomerular cysts. ( 25414114 )
2015
4
Renal tubular dysgenesis. ( 23636579 )
2014
5
Recurrent massive perivillous fibrin deposition in the placenta associated with fetal renal tubular dysgenesis: case report and literature review. ( 23899317 )
2013
6
Another case of concomitant fetal renal tubular dysgenesis and placental massive perivillous fibrin deposition. ( 24032745 )
2013
7
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. ( 22095942 )
2012
8
Survival over 2 years of autosomal-recessive renal tubular dysgenesis. ( 26069751 )
2012
9
Renal tubular dysgenesis and tubulointerstitial nephritis antigen in juvenile nephronophthisis. ( 21265929 )
2011
10
Renal tubular dysgenesis and reversible hypocalvaria after intrauterine exposure to an angiotensin receptor blocker. ( 25984140 )
2011
11
Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking. ( 21036942 )
2011
12
Impaired proteostasis contributes to renal tubular dysgenesis. ( 21695262 )
2011
13
Non-specific histopathological changes in kidney with renal tubular dysgenesis. ( 19616900 )
2010
14
Renin-angiotensin system in kidney development: renal tubular dysgenesis. ( 19924102 )
2010
15
Relationship of proximal renal tubular dysgenesis and fetal liver injury in neonatal hemochromatosis. ( 19809376 )
2010
16
Inherited renal tubular dysgenesis may not be universally fatal. ( 20607303 )
2010
17
A further case of renal tubular dysgenesis surviving the neonatal period. ( 18478260 )
2009
18
Congenital unilateral renal tubular dysgenesis and severe neonatal hypertension. ( 18982358 )
2009
19
Renal tubular dysgenesis in Israel: pathologist's experience and literature review. ( 19344005 )
2009
20
Inherited renal tubular dysgenesis: the first patients surviving the neonatal period. ( 17443344 )
2008
21
Renal tubular dysgenesis: report of two cases in a non-consanguineous couple and review of the literature. ( 17003548 )
2007
22
Renal tubular dysgenesis with atypical histology and in-utero exposure to naproxen sodium. ( 16925962 )
2006
23
Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system. ( 16790508 )
2006
24
A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations. ( 17036344 )
2006
25
Renal tubular dysgenesis associated with in utero exposure to Nimuselide. ( 16328538 )
2006
26
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. ( 16116425 )
2005
27
Renal tubular dysgenesis complicated with severe cranium hypoplasia. ( 15043673 )
2004
28
Renal tubular dysgenesis and neonatal hemochromatosis without pulmonary hypoplasia. ( 14677054 )
2004
29
Renal tubular dysgenesis with hypoplastic calvaria: report of two cases. ( 15517826 )
2004
30
Renal tubular dysgenesis-a case presentation. ( 15641273 )
2004
31
Renal tubular dysgenesis in an hydropic fetus with trisomy 21: a case report with literature review. ( 15018458 )
2003
32
Renal tubular dysgenesis with medullary ray nodules. ( 12644933 )
2003
33
Renal tubular dysgenesis in siblings. ( 12908573 )
2003
34
Renal tubular dysgenesis. ( 12908566 )
2003
35
Renal tubular dysgenesis and multiple intestinal perforation. ( 12447649 )
2003
36
Fibroepithelial bladder polyp and renal tubular dysgenesis: an unusual cause of third-trimester oligohydramnios. ( 11549150 )
2001
37
Renal tubular dysgenesis-like lesions and hypocalvaria. Report of two cases involving indomethacin. ( 11186177 )
2000
38
Lysozyme immunostaining in renal tubular dysgenesis. ( 10679040 )
2000
39
Renal tubular dysgenesis (RTD) - an important cause of the oligohydramnion-sequence. Report of 3 cases and review of the literature. ( 11156331 )
2000
40
Oxalate nephrocalcinosis in renal tubular dysgenesis. ( 10671031 )
1999
41
Renal tubular dysgenesis in twin-twin transfusion syndrome. ( 9841703 )
1999
42
Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome. ( 9856560 )
1998
43
Renal tubular dysgenesis in twins. ( 9686962 )
1998
44
Neonatal hemochromatosis, renal tubular dysgenesis, and hypocalvaria in a neonate. ( 9688768 )
1998
45
Renal tubular dysgenesis with microcephaly. ( 9260254 )
1997
46
Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review. ( 9350819 )
1997
47
Renal tubular dysgenesis: a cause of second trimester oligohydramnios. ( 9321784 )
1997
48
Renal tubular dysgenesis: a report of two cases. ( 8979193 )
1996
49
Familial renal tubular dysgenesis: a disorder not isolated to proximal convoluted tubules. ( 8705201 )
1995
50
Renal tubular dysgenesis present in a newborn with meconium ileus. ( 8008688 )
1994

Variations for Renal Tubular Dysgenesis

UniProtKB/Swiss-Prot genetic disease variations for Renal Tubular Dysgenesis:

66
id Symbol AA change Variation ID SNP ID
1 AGT p.Arg375Gln VAR_035433 rs74315283
2 AGTR1 p.Thr282Met VAR_035086 rs104893677
3 REN p.Arg230Lys VAR_035087 rs121917742
4 REN p.Asp104Asn VAR_035088 rs868694193

ClinVar genetic disease variations for Renal Tubular Dysgenesis:

6 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1 REN NM_000537.3(REN): c.145C> T (p.Arg49Ter) single nucleotide variant Pathogenic rs121917741 GRCh37 Chromosome 1, 204131245: 204131245
2 REN NM_000537.3(REN): c.689G> A (p.Arg230Lys) single nucleotide variant Pathogenic rs121917742 GRCh37 Chromosome 1, 204128527: 204128527
3 ACE NM_000789.3(ACE): c.798C> G (p.Tyr266Ter) single nucleotide variant Pathogenic rs121912704 GRCh37 Chromosome 17, 61557840: 61557840
4 ACE NM_000789.3(ACE): c.1319_1322delTGGA (p.Leu440Profs) deletion Pathogenic rs387906576 GRCh37 Chromosome 17, 61560027: 61560030
5 AGTR1 NM_031850.3(AGTR1): c.*86A> C single nucleotide variant risk factor rs5186 GRCh37 Chromosome 3, 148459988: 148459988
6 AGTR1 NM_031850.3(AGTR1): c.215dupT (p.Ile73Hisfs) duplication Pathogenic rs387906577 GRCh37 Chromosome 3, 148458932: 148458932
7 AGTR1 NM_031850.3(AGTR1): c.950C> T (p.Thr317Met) single nucleotide variant Pathogenic rs104893677 GRCh37 Chromosome 3, 148459667: 148459667
8 AGT NM_000029.3(AGT): c.803T> C (p.Met268Thr) single nucleotide variant risk factor rs699 GRCh37 Chromosome 1, 230845794: 230845794
9 AGT NM_000029.3(AGT): c.1124G> A (p.Arg375Gln) single nucleotide variant Pathogenic rs74315283 GRCh37 Chromosome 1, 230841679: 230841679
10 AGT NM_000029.3(AGT): c.604C> T (p.Gln202Ter) single nucleotide variant Pathogenic rs121912702 GRCh37 Chromosome 1, 230845993: 230845993
11 AGT NM_000029.3(AGT): c.1290delT (p.Phe430Leufs) deletion Pathogenic rs387906578 GRCh37 Chromosome 1, 230839055: 230839055
12 AGTR1 NM_031850.3(AGTR1): c.356G> A (p.Trp119Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398122935 GRCh37 Chromosome 3, 148459073: 148459073
13 AGTR1 NM_031850.3(AGTR1): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs397514687 GRCh37 Chromosome 3, 148459198: 148459198
14 ACE NM_000789.3(ACE): c.1486C> T (p.Arg496Ter) single nucleotide variant Pathogenic rs397514688 GRCh37 Chromosome 17, 61560533: 61560533
15 ACE NM_000789.3(ACE): c.2371C> T (p.Arg791Ter) single nucleotide variant Pathogenic rs397514689 GRCh37 Chromosome 17, 61566074: 61566074
16 REN NM_000537.3(REN): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic rs397514690 GRCh37 Chromosome 1, 204131263: 204131263
17 REN NM_000537.3(REN): c.404C> A (p.Ser135Tyr) single nucleotide variant Pathogenic rs397514691 GRCh37 Chromosome 1, 204129776: 204129776
18 ACE NM_000789.3(ACE): c.12_31del20 (p.Ser5Alafs) deletion Pathogenic rs797045079 GRCh38 Chromosome 17, 63477106: 63477125
19 ACE NM_000789.3(ACE): c.1522C> T (p.Arg508Ter) single nucleotide variant Pathogenic/Likely pathogenic rs367797185 GRCh37 Chromosome 17, 61560855: 61560855
20 ACE NM_000789.3(ACE): c.2642-1G> A single nucleotide variant Likely pathogenic rs778390161 GRCh37 Chromosome 17, 61568314: 61568314

Expression for Renal Tubular Dysgenesis

Search GEO for disease gene expression data for Renal Tubular Dysgenesis.

Pathways for Renal Tubular Dysgenesis

GO Terms for Renal Tubular Dysgenesis

Biological processes related to Renal Tubular Dysgenesis according to GeneCards Suite gene sharing:

(show all 25)
id Name GO ID Score Top Affiliating Genes
1 regulation of blood pressure GO:0008217 9.63 ACE AGT REN
2 positive regulation of cytosolic calcium ion concentration GO:0007204 9.62 AGT AGTR1
3 regulation of cell growth GO:0001558 9.62 AGT AGTR1
4 phospholipase C-activating G-protein coupled receptor signaling pathway GO:0007200 9.61 AGT AGTR1
5 positive regulation of inflammatory response GO:0050729 9.61 AGT AGTR1
6 blood vessel remodeling GO:0001974 9.6 ACE AGT
7 positive regulation of reactive oxygen species metabolic process GO:2000379 9.59 AGT AGTR1
8 positive regulation of protein tyrosine kinase activity GO:0061098 9.58 ACE AGT
9 positive regulation of cellular protein metabolic process GO:0032270 9.58 AGT AGTR1
10 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.57 AGT AGTR1
11 beta-amyloid metabolic process GO:0050435 9.56 ACE REN
12 regulation of vasodilation GO:0042312 9.55 ACE AGTR1
13 low-density lipoprotein particle remodeling GO:0034374 9.54 AGT AGTR1
14 regulation of blood vessel diameter GO:0097746 9.52 ACE AGTR1
15 positive regulation of cholesterol esterification GO:0010873 9.51 AGT AGTR1
16 regulation of vasoconstriction GO:0019229 9.5 ACE AGT AGTR1
17 positive regulation of NAD(P)H oxidase activity GO:0033864 9.49 AGT AGTR1
18 regulation of renal sodium excretion GO:0035813 9.48 AGT AGTR1
19 kidney development GO:0001822 9.46 ACE AGT AGTR1 REN
20 regulation of blood volume by renin-angiotensin GO:0002016 9.43 AGT REN
21 angiotensin maturation GO:0002003 9.43 ACE AGT REN
22 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.4 AGT AGTR1
23 regulation of renal output by angiotensin GO:0002019 9.37 ACE AGT
24 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.13 ACE AGT AGTR1
25 renin-angiotensin regulation of aldosterone production GO:0002018 8.8 AGT AGTR1 REN

Molecular functions related to Renal Tubular Dysgenesis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endopeptidase activity GO:0004175 8.96 ACE REN
2 bradykinin receptor binding GO:0031711 8.62 ACE AGTR1

Sources for Renal Tubular Dysgenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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